Genes genetic variation. Medical search. Frequent questions

Background Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series. (bmj.com)
Genetic variants were assessed using the American College of Medical Genetics criteria for pathogenicity. (bmj.com)
Conclusions A priori, individuals with AD, PD-DLB and FTD-ALS are more likely to harbour a known genetic risk factor, and it is the burden of these variants in combination with rare benign alleles that is likely to be responsible for some oligogenic associations. (bmj.com)
1-5 Some of the known risk alleles are common in the general population, raising the possibility that multiple interacting genetic variants might enhance the risk of developing disease or modify the disease phenotype. (bmj.com)
We found that every individual, other than identical twins, has a unique set of TCR gene variants. (labiotech.eu)
We discovered 175 new gene variants, which doubles the number of known TCR gene variants. (labiotech.eu)
An unexpected and surprising finding is that certain gene variants originate from Neanderthals and one of these is present in up to 20% of modern humans in Europe and Asia. (labiotech.eu)
We are now investigating the functional significance of several of the newly discovered gene variants and how this variation impacts our T-cell responses. (labiotech.eu)
Many surface protein genes were missing or truncated, unlike immune evasion genes, and several distinct variants were identified. (biomedcentral.com)
Whole-exome sequencing of 13 subjects with serious ritodrine-induced cardiac and pulmonary side-effects was performed to identify causal genes and variants. (nih.gov)
Ritodrine-induced cardiac and pulmonary side effects may be associated with deleterious genetic variants in ciliary and pharmacokinetic genes. (nih.gov)
Among people of European descent, GWASs have identified genetic variants at 13 loci that are associated with blood pressure. (ox.ac.uk)
A study by Pedersen and colleagues published in the February issue of GENETICS examines variation in whole exome sequences of 18 Greenlandic Inuit individuals, showing the power this unique population could have for identifying rare genetic variants linked to diseases. (genestogenomes.org)
The study found that Greenlandic Inuit have fewer genetic variants overall than other human populations tested so far, but the variants they do carry occur at higher frequencies. (genestogenomes.org)
To explore this idea, the authors estimated how much of the genetic variation in the Greenlandic population is likely to alter protein function, including potential loss-of-function alleles and variants that alter the amino acid sequence of a protein. (genestogenomes.org)
Nevertheless, the increased frequency of certain rare variants compared to other groups could prove a boon for disease association mapping by increasing the statistical power to detect links between gene variants and human diseases. (genestogenomes.org)
The genetic variants of DKK family genes influencing the DKKs expressions on GC was not well elucidated. (biomedcentral.com)
We hypothesized that variations of the corresponding DKKs , especially for those variants located in the gene functional region, may influence the mRNA and protein expression levels, and thus the predisposition of the disease. (biomedcentral.com)
Finally, comparison of these and parallel data from CD4(+) T cells of healthy humans demonstrated intriguing similarities in variability of a gene's expression: the most variable genes tended to be the same in both species, and there was an overlap in genes subject to strong cis-acting genetic variants. (ox.ac.uk)
Common genetic variants contribute to the risk of schizophrenia and bipolar disorder, an international research consortium has discovered. (sciencedaily.com)
Professor O'Donovan said: "The genetic variants we have identified are common in the population -- everyone carries many of them, but people with the disorders carry more. (sciencedaily.com)
TRPV1 is the target of several novel analgesics drugs under development and therefore, TRPV1 genetic variants might represent promising candidates for pharmacogenetic modulators of drug effects. (researchgate.net)
Genetic variants associated with disordered eating. (nih.gov)
By using CRISPR technology, these genes or gene variants can be moved into desirable genetic backgrounds that can be further moved via conventional crossing in later generations. (ufl.edu)
Replication studies identify several genetic variants in Arabs with obesity-linked diabetes. (who.int)
For example, variants of the ADIPOQ gene (the rs266729 single-nucleotide polymorphism) are associated with obesity and diabetes in various Arab countries. (who.int)
In addition, population genomic screening for common variants could help provide risk assessment and prevention for common diseases for persons with high polygenic risks , to identify carriers for certain genetic conditions for reproductive planning, and to identify persons with certain pharmacogenomic traits to guide the use of medications across the lifespan. (cdc.gov)
PRS calculate the additive influence of many common genetic variants on the risk of a particular disease. (cdc.gov)

ClinVar is an archive of compiled data relating to genotype and phenotype variations among humans. (darkdaily.com)
Using whole-genome quantitative gene expression as a model, here we study how the genetic architecture of regulatory variation in gene expression changed in a population of fully sequenced inbred Drosophila melanogaster strains when flies developed in different environments (25 °C and 18 °C). We find a substantial fraction of the transcriptome exhibited genotype by environment interaction, implicating environmentally plastic genetic architecture of gene expression. (nature.com)
Finally, although genotype by environment interaction in gene expression could potentially disrupt genetic networks, the co-expression networks are highly conserved across environments. (nature.com)
Change in genetic variation across environments is one of the many forms of genotype by environment interaction (G×E). G×E can be interpreted equivalently either as variable genetic architecture across environments or as variable environmental plasticity across genotypes, depending on what factor is chosen as the context. (nature.com)
Since all tobacco products share the ability of stimulating the dopaminergic reward system, variation in the DRD2 genotype might be associated with waterpipe smoking addiction. (who.int)
Major breakthroughs in medical genomics have been enabled by the implementation of clinical exome sequencing (ES) for molecular diagnosis, by genomics approaches for understanding the genetic basis of complex traits and diseases, and by progress in understanding genotype–phenotype relationships. (cdc.gov)

In addition to environmental factors, phenotypes can also respond to genetic perturbations in a plastic or homeostatic manner, which characterizes the potential of an organism to express phenotypes when genes mutate. (nature.com)
OBJECTIVE To use a hierarchical approach to determine the functional effects of this single-nucleotide polymorphism on 5-HT2AR messenger RNA and protein expression, on prefrontal phenotypes linked with genetic risk for schizophrenia, and on treatment with olanzapine. (uniba.it)
Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population. (bvsalud.org)

A key hormone receptor evolved quickly as or early humans migrated from Africa, producing localized gene changes that may affect modern women's risk of preterm birth, according to a Stanford-led study. (stanford.edu)
Humans have unexpectedly high genetic variation in the receptor for a key pregnancy-maintaining hormone, according to research led by scientists at the Stanford University School of Medicine . (stanford.edu)
The sequence in Han Chinese populations had an evolutionarily new variation, perhaps reflecting that premature birth would have been especially costly for the small group of ancestral humans who migrated from Africa to East Asia. (stanford.edu)
Students compare the sequence of amino acids in a gene shared between humans and six other organisms and infer evolutionary relationships among the species. (berkeley.edu)
The patterns of genetic variation in any group of organisms, including humans, are closely tied to its size and history. (genestogenomes.org)
Could gene editing give humans the ability to regrow lost limbs? (thetech.org)
It also allows tentative dating of the specimen on the basis of "missing evolution" in its genome, detailed measurements of Denisovan and Neandertal admixture into present-day human populations, and the generation of a near-complete catalog of genetic changes that swept to high frequency in modern humans since their divergence from Denisovans. (nih.gov)

This study lasted for 13 years and determined that there are an estimated 20,000 to 25,000 genes in the human body. (darkdaily.com)
The Human Genome Project has estimated that the human genome contains around 20,000 to 25,000 genes . (sciencebuddies.org)

To identify DNA-based genetic polymorphism for constructing a genetic linkage map of catfish, we tested 100 random amplification of polymorphic DNA (RAPD) primers for their utility in identifying genetic polymorphism in catfish. (syr.edu)
Genotypes included genome-wide single-nucleotide polymorphism (SNP) data utilizing the Affymetrix 6.0 array with imputation to 2.5 million HapMap SNPs and candidate gene SNP data utilizing a 50K cardiovascular gene-centric array (ITMAT-Broad-CARe [IBC] array). (ox.ac.uk)
Six SNPs (single nucleotide polymorphisms) of DKK family genes, including rs2241529 in DKK1 , rs3733635, rs17037102 and rs419764 in DKK2 , rs3206824 in DKK3 and rs2073664 in DKK4 , were selected and genotyped by restriction fragment length polymorphism (RFLP) and TaqMan SNP genotyping methods in 409 GC cases and 554 cancer-free controls in the Han population in eastern China. (biomedcentral.com)
To further examine this possible relationship, we investigated the hypothesis that a genetic polymorphism in the lactase (LCT) gene might be associated with elevated dairy product intake and increased prostate cancer risk in a case-control study nested in EPIC. (ox.ac.uk)
These findings show that while variation in the lactase gene is associated with milk intake in men, the lactase polymorphism does not have a large effect on prostate cancer risk. (ox.ac.uk)
A polymorphism (TaqI) in the 3' untranslated region of the dopamine receptor gene (DRD2), later localized to the neighboring ANKK1 gene, has been previously linked to cigarette smoking. (who.int)

Glutamic acid decarboxylase (GAD) enzymes synthesize GABA from glutamate, and, thus, are reasonable candidate susceptibility genes for these conditions. (nature.com)
These include high-risk cancer susceptibility genes, such as BRCA1, BRCA2 and PALB2 for hereditary breast and ovarian cancer , MLH1 , MSH2 and MSH6 for Lynch syndrome , and genes for cholesterol metabolism ( LDLR , APOB and PCSK9) for familial hypercholesterolemia . (cdc.gov)

In a population of genetically diverse individuals, the extent of genetic variation of a phenotype measures the overall sensitivity of individuals to mutations segregating in the population. (nature.com)
From Genes to Genetic Diseases: What Kinds of Mutations Matter? (sciencebuddies.org)
What kinds of mutations have to occur to cause a genetic disease? (sciencebuddies.org)
In this science project, you will explore online genetic databases to identify how a mutation in a gene can result in a dysfunctional protein, and how other mutations may have no effect at all. (sciencebuddies.org)
Determine why some gene mutations cause genetic diseases, but others do not. (sciencebuddies.org)
Sometimes only a single DNA mutation (change in the DNA sequence) can cause a person to have a devastating genetic disease , and researchers have been able to identify mutations responsible for causing thousands of different genetic diseases and conditions. (sciencebuddies.org)
an in-depth analysis of the first 2000 cases revealed that approximately 30% of patients with suspected genetic disease harbored presumptive causative mutations in disease genes that were discovered in the previous 3 years. (cdc.gov)

Whole genome sequences of 58 strains of S. aureus in the public domain and data from multi-strain microarrays were compared to assess variation in the sequence of proteins known or putatively interacting with host. (biomedcentral.com)
Variation in gene copy number can influence the activity of genes and the functioning of proteins made from them, which may affect body processes. (medlineplus.gov)
Basic understanding of what genes, DNA, and proteins are. (sciencebuddies.org)

Controlling for this bias is essential in studies investigating a potential role for oligogenic variation in neurodegenerative diseases. (bmj.com)
Genetic variation in over 50 genes contributes to the risk of developing neurodegenerative diseases. (bmj.com)
In the not-so-distant past, genetic testing was only performed in relation to specific diseases and conditions. (darkdaily.com)
We are also planning extended studies involving large groups of individuals to examine the role of TCR gene variation in diseases we know involve T cells, such as infectious diseases, cancer , and autoimmune disorders. (labiotech.eu)
The solute carrier family 11 member A1 (SLC11A1) gene is associated with resistance to infectious diseases. (unica.it)
A team of scientists has found new molecular evidence that 11 genetic regions have strong links with these diseases, including six regions not previously observed. (sciencedaily.com)
The researchers also found that many of these DNA variations contribute to both diseases. (sciencedaily.com)
Analysis of these types of specimens has already proven useful in finding important genes related to ALS and other motor neuron diseases. (cdc.gov)
Since pathways implicated in different diseases reveal surprising insights into shared genetic bases underlying apparently unrelated traits, we hypothesize that there are common genetic components involved in the clustering of MetS traits. (biomedcentral.com)
Newborn screening is a highly successful public health program that has led to major improvements in outcomes for a variety of mostly rare genetic diseases associated with preventable long-term disease, disability, and death. (cdc.gov)
A You will not directly benefit but these studies may genes are helping us learn about many diseases and health eventually help the health of people in the future. (cdc.gov)

The new findings are further evidence for the general assumption that dozens of genes, along with environmental factors, contribute to disease risk. (sciencedaily.com)

The deleterious impact of nonsynonymous substitutions for all genes was computed and compared between cases (n = 13) and controls (n = 30). (nih.gov)
This might reflect the prediction that very small populations see increases in deleterious variation since natural selection is less effective in small groups. (genestogenomes.org)
The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit. (genestogenomes.org)
Gene editing technology can be used to almost surgically adjust the gene or genes behind that deleterious trait. (ufl.edu)

The findings, based on genetic data from tens of thousands of patients, have just been published online in two papers in the journal Nature Genetics . (sciencedaily.com)
The method adds a large amount of genetic information as a basis for complete analysis of TRPV1 ion channel genetics and its functional consequences. (researchgate.net)

Since we all have genetic variation at multiple genes, genomic screening could impact large swaths of the population. (cdc.gov)
Finally, we identified aberrant methylation in multiple genes also targeted by recurring DNA copy number alterations in ALL, suggesting that these genes are inactivated far more frequently than suggested by structural genomic analyses alone. (lu.se)

Chromosomal localisation, genomic regions corresponding to functional domains and the genetic variability of microsatellites in the 3' untranslated region (3'-UTR) of this gene were investigated in 427 goats (Capra hircus) of six breeds. (unica.it)
The journal was launched to meet the need in the community for a platform to publish impactful and open science that advances basic and clinical research—using genetic, genomic, omic, and systems approaches—that has the potential to revolutionize the practice of medicine. (cdc.gov)

Although the majority of expression quantitative trait loci (eQTLs) for the gene expression traits in the two environments are shared and have similar effects, analysis of the environment-specific eQTLs reveals enrichment of binding sites for two transcription factors. (nature.com)
With the aim of identifying these common genetic components, we have performed a genetic association study by integrating MetS traits in a continuous MetS score. (biomedcentral.com)
Recent technology has been developed to precisely engineer genes for traits of interest. (ufl.edu)
CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) is one form of gene editing that can be used to precisely modify a gene of interest without otherwise compromising the favorable traits of an elite variety (Rani et al. (ufl.edu)
The UF/IFAS strawberry breeding program has identified several important gene regions controlling disease resistance traits that are directly relevant to Florida growers. (ufl.edu)
However, just as each cultivar has different traits and qualities, they also behave differently with respect to introduction of new genes. (ufl.edu)
These findings show that both allelic heterogeneity and different combinations of alleles at a locus can be important for the manifestations of disease traits, that the combination of rare variant coding alleles with common variant non-coding alleles can be important for trait manifestation or for the penetrance of disease, and that gene dosage and expression perturbations can result in developmental birth defects. (cdc.gov)

The impact of host genetic variation on infection with HIV-1. (cdc.gov)

Using deep sequencing of blood samples, the researchers examined TCR genes in 45 people originating from sub-Saharan Africa, East Asia, South Asia and Europe. (labiotech.eu)
The researchers showed that these genes vary greatly between different individuals and population groups. (labiotech.eu)
The findings and the new TCR gene database the researchers now publish can be of great importance in the development of new therapeutic approaches in the future. (labiotech.eu)
The researchers found that East Asian populations have one version of the progesterone receptor gene that appears to protect them against giving birth prematurely, whereas other populations with European or African ancestry have a higher prematurity risk and other versions of this gene. (stanford.edu)
Researchers may be able to study the genetic variation in those with ALS. (cdc.gov)
The genetic marker likely acts along with other genes to contribute to the risk of psychosis from cannabis smoking, the researchers said. (livescience.com)

More broadly, this work supports that notion that blood pressure among AAs is a trait with genetic underpinnings but also with significant complexity. (ox.ac.uk)
Finding the genetic underpinnings of cannabis psychosis may lead to the development of therapies for the condition, said Dr. John Krystal, editor of Biological Psychiatry, the journal in which the study was published Nov. 15. (livescience.com)

The variations in the progesterone receptor gene - consisting of single nucleotide polymorphisms, or one-letter changes in the genetic code - were found in regions of the gene that regulate when it is switched on and off. (stanford.edu)
Genes that regulate the immune system may also contribute to ulcerative colitis, particularly genes that are involved in the maturation and function of immune cells called T cells . (medlineplus.gov)
Recent studies found that unique epigenetic signatures preferentially regulate cell identity genes. (bvsalud.org)
Through integrative analysis of Hi-C, DNase-Seq, ChIP-Seq, and RNA-Seq data, we find MECOM binds enhancers that form chromatin loops to regulate endothelial cell identity genes. (bvsalud.org)

Understanding the roles of ecological, epidemiological and genetic factors, and specifically the host- pathogen molecular interactions, involved in host-to-host transmission and colonisation is essential for us to expose novel opportunities for the control of the pathogen. (biomedcentral.com)
One particularly exciting finding is the involvement of a type of molecule, known as a microRNA, which acts as a molecular switch to turn off other genes. (sciencedaily.com)

Previous studies of DNA methylation suggest epigenetic alterations may also be important, but an integrated genome-wide analysis of genetic and epigenetic alterations in ALL has not been performed. (lu.se)
We also identified an epigenetic signature common to all cases, with correlation to gene expression in 65% of these genes, suggesting that a core set of epigenetically deregulated genes is central to the initiation or maintenance of lymphoid transformation. (lu.se)

The isolates were analyzed using pulsed-field gel electrophoresis, multilocus sequence typing and sequencing of the szP gene. (cdc.gov)
S. zooepidemicus displays a wide genetic variation between different isolates. (cdc.gov)

This review summarizes the major pathological factors linking obesity to diabetes, focussing on current epidemiological data related to obese diabetic patients in the Arab world, the etiology of the disease and the genetic determinants of diabetes and obesity. (who.int)
Few studies have been conducted on the epidemiology of waterpipe smoking behavior and its genetic determinants. (who.int)

Hexamethylene diisocyanate asthma is associated with genetic polymorphisms of CD14, IL-13, and IL-4 receptor alpha. (cdc.gov)

This identified approximately 140 chromosome loci where nucleotides deviated from the reference sequence GRCh37 hg19 comprising the three genes TRPV1, LTB4R and LTB4R2. (researchgate.net)
The sequence of the SzP protein gene, or szP, has been shown to vary greatly between different strains of S. zooepidemicus and the variable regions of szP can be used to genetically differentiate strains within the subspecies. (cdc.gov)

Genetic variability is being discussed as a source of inter‐individual differences in Theory of Mind development. (mpg.de)
We speculate that this "conservation of variation" reflects a differential constraint on intraspecies variation in expression levels of different genes, either through lower pressure for some genes, or by favoring variability for others. (ox.ac.uk)

Methods A next-generation sequencing (NGS) panel was created for the human TRPV1 gene and in addition, for the leukotriene receptors BLT1 and BLT2 recently described to modulate TRPV1 mediated sensitisation processes rendering the coding genes LTB4R and LTB4R2 important co-players in pharmacogenetic approaches involving TRPV1. (researchgate.net)
HLA class II genes modulate vaccine-induced antibody responses to affect HIV-1 acquisition. (cdc.gov)

The U.S. Department of Energy (DOE) and the National Institute of Health (NIH) launched the Human Genome Project in 1990 with the purpose of identifying and mapping all the genes within the human body. (darkdaily.com)
It was previously unknown how variable human TCR genes are," said Gunilla Karlsson Hedestam, professor at the department of microbiology, tumor and cell biology at Karolinska Institutet in Sweden, and the study's lead author. (labiotech.eu)
I just read about scientists using CRISPR to fix a gene in human embryos. (thetech.org)
The NGS workflow was based on a custom AmpliSeq™ panel and designed for sequencing of human genes on an Ion PGM™ Sequencer. (researchgate.net)
Cloning of a mouse cytosolic 5'-nucleotidase-I identifies a new gene related to human autoimmune infertility-related protein. (nih.gov)
More than 10 percent of the human genome appears to contain differences in gene copy number. (medlineplus.gov)
A definition of copy number variation is included in the Talking Genome Glossary from the National Human Genome Research Institute. (medlineplus.gov)
Every gene in the human body consists of DNA (deoxyribonucleic acid). (sciencebuddies.org)

In this study, we examined the GAD1 and GAD2 genes for their association with genetic risk across a range of internalizing disorders. (nature.com)
We used multivariate structural equation modeling to identify common genetic risk factors for major depression, generalized anxiety disorder, panic disorder, agoraphobia, social phobia and neuroticism (N) in a sample of 9270 adult subjects from the population-based Virginia Adult Twin Study of Psychiatric and Substance Use Disorders. (nature.com)
Subject to confirmation in an independent sample, our study suggests that variations in the GAD1 gene may contribute to individual differences in N and impact susceptibility across a range of anxiety disorders and major depression. (nature.com)
Along the same lines, a genetic study carried out in 2001 revealed that the Y-chromosome of Celtic populations do not differ statistically from the Basques, establishing a link between them and such populations as the Irish and the Welsh. (wikipedia.org)
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. (ox.ac.uk)
This study was designed to investigate the relationship between the genetic variations of DKK family genes and the risk of gastric cancer (GC). (biomedcentral.com)
This is the first report of a genetic association study using a continuous MetS score. (biomedcentral.com)
Despite the sample size limitation of our study, this strategy can be useful to find genetic factors involved in the etiology of other disorders that are defined in a dichotomized way. (biomedcentral.com)
Observational study of gene-disease association. (nih.gov)
People who smoke pot may be at increased risk for psychosis if they have a certain genetic marker, a new study finds. (livescience.com)
AIM: This study aims to explore genetic variations in DRD2 gene and waterpipe smoking, motives and addiction in Egyptian rural males. (who.int)

DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines. (uchicago.edu)
We analyzed 137 B-lineage and 30 T-lineage childhood ALL cases using microarray analysis of DNA copy number alterations and gene expression, and genome-wide cytosine methylation profiling using the HpaII tiny fragment enrichment by ligation-mediated PCR (HELP) assay. (lu.se)
We found that the different genetic subtypes of ALL are characterized by distinct DNA methylation signatures that exhibit significant. (lu.se)

G×E has important implications in quantitative trait variation and evolution. (nature.com)
Investigators need to examine the potential role and implications of using genetic information in standard setting. (cdc.gov)

It is suitable for large-scale sequencing of TRPV1 and functionally related genes. (researchgate.net)
CONCLUSIONS AND RELEVANCE Our results suggest that HTR2A rs6314 affects 5-HT2AR expression and functionally contributes to genetic modulation of known endophenotypes of schizophrenia-like higher-level cognitive behaviors and related prefrontal activity, as well as response to treatment with olanzapine. (uniba.it)

The significant genes were annotated with Gene Ontology (GO), and the associated disease terms were categorised into four functional classes for functional enrichment tests. (nih.gov)
The significantly identified genes were categorized into four functional classes: ion binding, ATP binding, Ca 2+ -related, and ciliopathies-related. (nih.gov)
However, for the first time, we are in a position to make tentative functional links between some of the genes identified. (sciencedaily.com)
Many things can happen during this process to prevent a gene from turning into protein or to have a non-functional protein created. (sciencebuddies.org)
Several functional studies have reported that the Ahl gene renders mice more susceptible to noise -induced hearing loss (NIHL) than strains which do not carry this gene [e.g. (cdc.gov)

The authors speculate this difference may be due to compensatory variation elsewhere in the genome since type 2 diabetes is a multigenic trait with many underlying contributing factors. (genestogenomes.org)
We identified 1222 cis-expression quantitative trait loci (cis-eQTL) that control some of this variation. (ox.ac.uk)

Based on policy discussions, it is possible that the first-generation plants containing the edited genes will not require extensive regulation, and these tools will be extremely valuable in the long-term efforts of every strawberry breeding program. (ufl.edu)

A cohort of 80 healthy subjects of Western European descent was screened to evaluate and validate the detection of exomic sequences of the coding genes with 25 base pair exon padding. (researchgate.net)
Here, a phylogenetic tree visualizes the genetic affinity between Lyme disease bacteria isolated from ticks in Binghamton region (white circles/nodes) and bacteria reported from elsewhere according to the bacteria's ospC gene DNA sequences. (binghamton.edu)

Scholars@Duke publication: Genetic Variation in the Platelet Endothelial Aggregation Receptor 1 Gene Results in Endothelial Dysfunction. (duke.edu)
Based on the results of this meta-analysis we examined whether genetic variation in PEAR1 influences endothelial function using an ex vivo assay of endothelial cell migration. (duke.edu)
Our results suggest for the first time that genetic variation of PEAR1 is a significant determinant of endothelial function through pathways implicated in cardiovascular disease. (duke.edu)

The vast diversity of tests available range from carrier testing for genetic disorders, and diagnostic testing for genetic or chromosomal conditions, to prenatal diagnosis and newborn screenings, to genealogical and paternity testing to forensic analysi s. (darkdaily.com)
Genetic diversity, disease resistance and pest control are highlighted. (berkeley.edu)
The larger a population, the more genetically diverse it should be, and a migrant population will be less diverse than its source since its genetic diversity is a subset of the larger source population. (genestogenomes.org)
The quality of this genome allows a direct estimation of Denisovan heterozygosity indicating that genetic diversity in these archaic hominins was extremely low. (nih.gov)
The impact of HIV-1 genetic diversity on the efficacy of a combinatorial RNAi-based gene therapy. (cdc.gov)

Genetic variation in the lactase gene, dairy product intake and risk for prostate cancer in the European prospective investigation into cancer and nutrition. (ox.ac.uk)
Contribution of adenosine related genes to the risk of depression with disturbed sleep. (nih.gov)
While much of this variation does not affect health or development, some differences influence a person's risk of disease , particularly some types of cancer, or response to certain drugs . (medlineplus.gov)
Among people who use the drug every day, the risk for psychosis increases sevenfold for those who have the genetic marker. (livescience.com)
A genetic marker may increase the risk of psychosis from smoking cannabis. (livescience.com)
This effort would use increasingly affordable sequencing technology to measure a defined set of genes that meet the evidentiary bars of high disease risk and effective intervention. (cdc.gov)
For persons identified to be at high genetic risk of these conditions, there are evidence-based guidelines for effective risk management interventions to prevent disease. (cdc.gov)

A smoothed map describing variation in allele frequencies over space is first estimated for each allele based on the genotypes of individuals with known locations, and locations of new samples are then predicted by maximizing the likelihood of observing a given combination of alleles at the predicted location. (elifesciences.org)
In this project we aim to investigate if wood lice in urban gardens/parks have different genetic variation/alleles compared to individuals that reside in nature reserves or national parks. (lu.se)

Gunilla Karlsson Hedestam said the variation in these TCR genes cannot be detected with the standard methods used in whole genome sequencing, but with the development of specialized deep sequencing methods and analysis software that allow highly precise definition of B- and T-cell receptor genes, this is now possible. (labiotech.eu)
The findings also predict that the genetic forms of the progesterone receptor seen in East Asians would not necessarily protect against premature birth in other populations. (stanford.edu)

This approach is known as 'CRISPR' gene editing. (ufl.edu)
We anticipate that, over the next decade, CRISPR and other gene editing techniques will be used to rapidly develop elite strawberry varieties with improved disease resistance, fruit quality, and other valuable attributes. (ufl.edu)
What is CRISPR gene editing? (ufl.edu)
Does CRISPR gene editing = transgenic technology? (ufl.edu)
We published another article about CRISPR gene editing in crop improvement ( https://edis.ifas.ufl.edu/publication/HS1334 ). (ufl.edu)

Certain genetic variations may make some individuals more prone to an overactive immune response to the bacteria and other microbes in the intestines, which may cause the chronic inflammation that occurs in people with ulcerative colitis. (medlineplus.gov)
The BMD is defined as the maximum period that would not could be defined by certain genetic polymor- likelihood estimate of exposure that provides result in adverse health effects phisms as hypersusceptible. (cdc.gov)

Variation in genes can be used to infer relationships between organisms. (binghamton.edu)
While the finished varieties do not contain DNA from other organisms, the process introduces genetic information that orchestrates the desired genetic change. (ufl.edu)
Most organisms are more closely related to nearby than distant members of their species, creating spatial autocorrelations in genetic data. (elifesciences.org)

As these genes are among the most variable in our genome, the results also provide new information about how our immune system has developed over the course of history," Corcoran said. (labiotech.eu)
Surface and immune evasion genes are candidates for S. aureus vaccines, and their distribution and functionality is key. (biomedcentral.com)

Copy number variation accounts for a significant amount of genetic difference between people. (medlineplus.gov)

Our genes are made up of hundreds to millions of building blocks, called DNA nucleotides, and if just a single nucleotide of DNA becomes mutated it might cause a devastating genetic disease. (sciencebuddies.org)

We conclude that these limitations currently prevent firm conclusions on genetic influences on Theory of Mind development. (mpg.de)
These genetic loci represent the best evidence of genetic influences on SBP and DBP in AAs to date. (ox.ac.uk)

The coefficient of genetic differentiation value (G(ST)) was 0.084. (unica.it)

The compound inheritance gene dosage model shows that haploinsufficiency does not cause the phenotype whereas a homozygous null allele is lethal. (cdc.gov)

Genetic Cluster Analysis for HIV Prevention. (cdc.gov)

A review and meta-analysis of the genetic epidemiology of anxiety disorders. (nature.com)
Professor Owen added: "Many genes are clearly involved in these disorders and it will be a few years yet till we are able to see a large part of the picture. (sciencedaily.com)

Recent natural selection took the genetic code in different directions as different populations adapted to their local environments, the scientists found. (stanford.edu)
In contrast, modern populations with European and African ancestry had a greater mixture reflecting new and ancestral versions in the gene. (stanford.edu)
X chromosome microsatellites also seem to point to Basques being the most direct descendants of prehistoric Western Europeans, having the highest percent of "Western European genes" but found also at high levels among neighbor populations, as they are also direct descendants of the same people. (wikipedia.org)
When compared to much larger populations, the patterns of variation differ in specific ways. (genestogenomes.org)
In natural populations, local mate selection and dispersal create correlations between geographic location and genetic variation - each individual's genome is a mosaic of material inherited from recent ancestors that are usually geographically nearby. (elifesciences.org)
and also offers a way to analyze variation in geographic ancestry without assuming the existence of discrete ancestral populations. (elifesciences.org)

Our findings were proven technically and clinically using bioinformatical data sets for single-cell sequencing, copy number variation and gene as well as protein expression. (bvsalud.org)

Copy number variation results from insertions, deletions, and duplications of large segments of DNA that are at least one thousand nucleotides (also called 1 kilobase or 1kb) in length. (medlineplus.gov)
The Howard Hughes Medical Institute discusses the results of recent research on copy number variation in the news release, Genetic Variation: We're More Different Than We Thought . (medlineplus.gov)
More information about copy number variation is available in a video from Cold Spring Harbor Laboratory. (medlineplus.gov)

This comprehensive non‐replication is important to balance current research on genetic markers of Theory of Mind. (mpg.de)
A genetic linkage map is needed to improve efficiency of breeding by marker-assisted selection (MAS), and for identification, isolation and eventual cloning of commercially important genes. (syr.edu)
Genes with higher network connectivity are under stronger stabilizing selection, suggesting that stabilizing selection on expression plays an important role in promoting network robustness. (nature.com)
As well as their cultural and historical contributions, the people of Greenland carry important information in their genes. (genestogenomes.org)
Cystic fibrosis is caused by a mutation in the CFTR gene, which encodes for a chloride channel that is important for regulating water flow into, and out of, the cells. (sciencebuddies.org)

Anatomy8

Organisms28

Diseases6

Chemicals and Drugs16

Analytical, Diagnostic and Therapeutic Techniques and Equipment49

Psychiatry and Psychology5

Phenomena and Processes110

Disciplines and Occupations15

Anthropology, Education, Sociology and Social Phenomena4

Technology, Industry, Agriculture5

Humanities1

Information Science9

Named Groups10

Health Care41

Geographicals16

Variants28

Genotype6

Phenotypes3

Humans7

20,000 to 25,0002

Polymorphism6

Susceptibility genes2

Mutations7

Proteins3

Diseases11

Dozens of genes1

Deleterious4

Genetics2

Multiple genes2

Genomic2

Traits7

Infection1

Researchers6

Underpinnings2

Regulate4

Molecular2

Epigenetic2

Isolates2

Determinants2

Polymorphisms1

Sequence2

Variability2

Modulate2

Human8

Study11

Methylation3

Implications2

Functionally2

Functional5

Trait2

Regulation1

Sequences2

Endothelial3

Diversity5

Risk7

Alleles2

Receptor2

CRISPR5

Certain genetic2

Organisms3

Immune2

Amount of genetic1

Devastating genetic disease1

Influences2

Differentiation1

Phenotype1

Cluster Analysis1

Disorders2

Populations6

Findings1

Copy number va3

Important5